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Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype.
Schubert T, Gleiser C, Heiduschka P, Franz C, Nagel-Wolfrum K, Sahaboglu A, Weisschuh N, Eske G, Rohbock K, Rieger N, Paquet-Durand F, Wissinger B, Wolfrum U, Hirt B, Singer W, Rüttiger L, Zimmermann U, Knipper M. Schubert T, et al. Cell Mol Life Sci. 2015 Oct;72(20):3953-69. doi: 10.1007/s00018-015-1913-3. Epub 2015 May 6. Cell Mol Life Sci. 2015. PMID: 25939269 Free PMC article.
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
Bujakowska K, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna PF, Makarov E, Makarova O, Paquet-Durand F, Ekström PA, van Veen T, Leveillard T, Humphries P, Seeliger MW, Bhattacharya SS. Bujakowska K, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578015
107 results